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P823 Study launch: Investigating genetic and environmental factors in the faroese IBD cohort—the INCEPTION study

A. Vang*1, K. R. Nielsen2, J. Midjord2, M. á. F. Berbisa1, Ó. Mortensen3, G. Andorsdóttir3,4, N. O. Gregersen3, J. Burisch2

1University of the Faroe Islands, Department of Health and Nursing Sciences, Tórshavn, Faroe Islands, 2National Hospital of the Faroe Islands, Department of Medicine, Tórshavn, Faroe Islands, 3Genetic Biobank of the Faroe Islands, FarGen, Tórshavn, Faroe Islands, 4Genetic Biobank of the Faroe Islands, Tórshavn, Faroe Islands

Background

The Faroe Islands constitute a unique genetically and geographically isolated population located in the North Atlantic Ocean. Previous epidemiological studies have found the worldwide highest incidence of inflammatory bowel disease (IBD) on the Faroe Islands1 as well as high familial aggregation and influence of environmental factors on disease risk.2 Therefore, the Faroe Islands present a unique opportunity for studying the genetic risk for IBD, environmental modifiers of disease penetrance, and their joint contribution. The INCEPTION study aims to investigate this using the Faroese IBD cohort—a nationwide cohort of all IBD patients diagnosed with ulcerative colitis, Crohn’s disease, and IBD Unclassified since 1960. The foundation of the cohort is a PROGENY and a Epi-IBD database of clinical, epidemiological, and genealogical information. We now report on the initial recruitment stages and experimental pipeline for the INCEPTION study – the first clinical study involving the Faroese IBD cohort.

Methods

We are recruiting a cross-sectional cohort of ulcerative colitis patients matched with healthy controls. Samples are being collected for whole-exome-sequencing, 16S rRNA bacterial sequencing, environmental exposures and nutritional status, along with questionnaires addressing environmental factors, disease activity and food recall. All human and bacterial sequencing is being performed on-site at Research Park iNOVA, Tórshavn, Faroe Islands.

Results

We have identified 559 living ulcerative colitis patients in the Faroese IBD cohort, 327 with age of onset between 18–40. To ensure genetic associations identified during analysis are due to disease and not inter-relatedness, all identified patients and healthy controls are being sorted to exclude first degree relatives. Following sorting, 158 patients were sent an invitation to participate in the study. Since the project launch meeting on October 24, 2018, informed consent has been received for 32 patients and over 300 matched-control individuals have been identified through the FarGen project. Blood samples from 32 patients and 300 controls are currently in the routine whole-exome sequencing pipeline. DNA from 17 stool samples has been extracted and is biobanked awaiting 16S rRNA library prep and sequencing. Ethical permission to recruit prospectively has been granted. We are now working out the logistics of recruitment and collection of biopsies at the National Hospital of the Faroe Islands.

Conclusion

The first project to focus on the genetic and environmental factors driving the high incidence of IBD with ulcerative colitis as the prominent disease phenotype within the Faroese population has been successfully launched.

References

1. Hammer T, Nielsen KR, Munkholm P, et al. The Faroese IBD study: incidence of inflammatory bowel diseases across 54 years of population-based data. J Crohns Colitis 2016.

2. Hammer T, Lophaven SN, Nielsen KR, et al. Inflammatory bowel diseases in Faroese-born Danish residents and their offspring: further evidence of the dominant role of environmental factors in IBD development. Aliment Pharmacol Ther 2017.